Describe how normal sphingomyelinase protein

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Reference no: EM133608308

Niemann-Pick disease is a homozygous recessive disease, which occurs when cells in the body lack the enzyme sphingomyelinase that is required to break down sphingomyelin. If this enzyme is lacking or occurs in low amounts sphingomyelin builds up inside cells causing cell death, tissue death, and makes it hard for organs to work properly. Niemann-Pick disease is classified as a lysosomal storage disease.

Using your knowledge of the endomembrane system:

1. Describe how a normal sphingomyelinase protein would be translated and processed.

2. Specifically, where might the mutation(s) occur?

3. Pick one of the potential mutations and design an experiment using one of the modern methods to test how the processing in the endomembrane could have been affected. Assume you have all the necessary reagents antibodies, cell lines, equipment, ect. to do the experiments you propose.

4. Describe why sphingomyelinase is so important to the cell.

5. The unfolded protein response (UPR) is the cell's response to the accumulation of unfolded proteins in the ER, which can be the result of calcium ion depletion, hypoxia, altered glycosylation, or infection. Would UPR alleviate some of the detrimental effects of Niemen-Pick disease? Mechanistically how might this process work?

Reference no: EM133608308

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